ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)

gnomAD frequency: 0.00001  dbSNP: rs1410654779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV002473254 SCV002771587 uncertain significance not provided 2022-02-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279593 SCV001466695 uncertain significance Pyruvate dehydrogenase complex deficiency 2020-08-13 no assertion criteria provided clinical testing

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